Hypertelorism with esophageal abnormality and hypospadias

Preferred Label : Hypertelorism with esophageal abnormality and hypospadias;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0532848;

UMLS CUI

C1801950;

Currated CISMeF NLP mapping
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Opitz BBB/G syndrome [ICD-11 More detail]
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz GBBB syndrome [ORDO Disease]
- Opitz gbbb syndrome [OMIM Phenotype]
- Opitz gbbb syndrome, type II [OMIM Phenotype]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- Opitz-GBBB syndrome [DO Concept]
- opitz-frias syndrome [SNOMED Notion]
Related record
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz gbbb syndrome, type II [OMIM Phenotype]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
Validated automatic mappings to NTBT
- Opitz syndrome [Disease (Nov.)]